NM_000540.3(RYR1):c.12813C>T (p.Gly4271=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002486835.1
Allele description [Variation Report for NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)]
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)
Condition(s)
- Name:
- Central core myopathy (CMYO1A)
- Synonyms:
- Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000
- Name:
- Malignant hyperthermia, susceptibility to, 1 (MHS1)
- Synonyms:
- Anesthesia related hyperthermia; Malignant hyperpyrexia; Fulminating hyperpyrexia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007783; MedGen: C2930980; Orphanet: 423; OMIM: 145600
- Name:
- Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
- Synonyms:
- MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789
-
602341467F1 NIH_MGC_89 Homo sapiens cDNA clone IMAGE:4449400 5', mRNA sequence
602341467F1 NIH_MGC_89 Homo sapiens cDNA clone IMAGE:4449400 5', mRNA sequencegi|12671426|gnl|dbEST|7735631|gb|BG 3.1|Nucleotide
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Dasyatis tortonesei isolate G547 NADH dehydrogenase subunit 2 (ND2) gene, partia...
Dasyatis tortonesei isolate G547 NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrialgi|1485347856|gb|KY949221.1|Nucleotide
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PREDICTED: Oryza sativa Japonica Group heat shock cognate 70 kDa protein (LOC433...
PREDICTED: Oryza sativa Japonica Group heat shock cognate 70 kDa protein (LOC4332416), mRNAgi|2756252587|ref|XM_015775053.3|Nucleotide
-
prion protein [Hydropotes inermis]
prion protein [Hydropotes inermis]gi|1562121107|gb|QAU19535.1|Protein
-
Kuhlia marginata voucher Kmar1 cytochrome oxidase subunit 1 (COI) gene, partial ...
Kuhlia marginata voucher Kmar1 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|339716828|gnl|uoguelph|BPY050-11 5P|gb|JN021220.1|Nucleotide
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Last Updated: Jul 29, 2024